ClinVar Miner

List of variants studied for coenzyme Q10 deficiency by Baylor Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197 0.00130
NM_020312.4(COQ9):c.323T>G (p.Leu108Arg) rs11547480 0.00101
NM_020247.5(COQ8A):c.1677C>G (p.His559Gln) rs200963031 0.00036
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) rs201388841 0.00027
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys) rs144147839 0.00025
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg) rs759470563 0.00007
NM_020247.5(COQ8A):c.263G>T (p.Gly88Val) rs141687205 0.00006
NM_020247.5(COQ8A):c.664G>A (p.Val222Met) rs372435075 0.00006
NM_032314.4(COQ5):c.353G>A (p.Gly118Asp) rs377668174 0.00006
NM_020247.5(COQ8A):c.785G>A (p.Arg262Gln) rs145422777 0.00004
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser) rs776825296 0.00003
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His) rs767899984 0.00003
NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys) rs566845170 0.00002
NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu) rs1208562247 0.00001
NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser) rs771166601 0.00001
NM_016035.5(COQ4):c.1A>G (p.Met1Val) rs751764908 0.00001
NM_016035.5(COQ4):c.2T>C (p.Met1Thr) rs1255137785 0.00001
NM_016035.5(COQ4):c.317C>T (p.Ser106Leu) rs767379261 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu) rs372737420 0.00001
NM_014317.5(PDSS1):c.1164_1165del (p.Ile388fs) rs1425736863
NM_014317.5(PDSS1):c.94T>A (p.Leu32Met) rs1834912984
NM_015697.9(COQ2):c.97C>T (p.His33Tyr) rs1735431555
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter) rs201618750
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
NM_020247.5(COQ8A):c.638_645del (p.Arg213fs) rs886042265
NM_020312.4(COQ9):c.449T>C (p.Val150Ala) rs1189027445
NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp) rs1236270228
NM_020381.4(PDSS2):c.837G>A (p.Met279Ile) rs753476156
NM_182476.3(COQ6):c.644G>T (p.Arg215Leu)

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